NM_001114753.3(ENG):c.875dup (p.Asp294fs) AND Hereditary hemorrhagic telangiectasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 3, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002991773.3

Allele description [Variation Report for NM_001114753.3(ENG):c.875dup (p.Asp294fs)]

NM_001114753.3(ENG):c.875dup (p.Asp294fs)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.875dup (p.Asp294fs)

HGVS:

NC_000009.12:g.127824916dup
NG_009551.1:g.34853dup
NM_000118.4:c.875dup
NM_001114753.3:c.875dupMANE SELECT
NM_001278138.2:c.329dup
NM_001406715.1:c.875dup
NP_000109.1:p.Asp294Argfs
NP_000109.1:p.Asp294fs
NP_001108225.1:p.Asp294Argfs
NP_001108225.1:p.Asp294fs
NP_001265067.1:p.Asp112fs
NP_001393644.1:p.Asp294Argfs
LRG_589t1:c.875dup
LRG_589t2:c.875dup
LRG_589:g.34853dup
LRG_589p1:p.Asp294fs
LRG_589p2:p.Asp294Argfs
NC_000009.11:g.130587194_130587195insA
NC_000009.11:g.130587195dup
NM_000118.3:c.875dup
NM_001114753.2:c.875dup

Protein change:

D112fs

Molecular consequence:

NM_000118.4:c.875dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001114753.3:c.875dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278138.2:c.329dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406715.1:c.875dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary hemorrhagic telangiectasia (HHT)
Synonyms:: Osler Weber Rendu syndrome; ORW disease; Osler-Rendu-Weber disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0019180; MedGen: C0039445; OMIM: PS187300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003312600	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Feb 3, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15879500, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003312600

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Feb 3, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Abdalla SA, Letarte M.

J Med Genet. 2006 Feb;43(2):97-110. Epub 2005 May 6. Review.

PubMed [citation]

PMID:: 15879500
PMCID:: PMC2603035

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003312600.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ENG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp294Argfs*40) in the ENG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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